|OBO ID: DOID:0050647|
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|Term Name:||Arts syndrome||Search Ontology:|
|Definition:||An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (5)|
|Ontology:||Human Disease (DOID:0050647)|
|is a type of:||
OTHER Arts syndrome PAGES
PHENOTYPE No data available